Gene Expression Profiling and Fine Mapping Identifies a Gibberellin 2-Oxidase Gene Co-segregating With the Dominant Dwarfing Gene Ddw1 in Rye (Secale cereale L.).

The gibberellin (GA)-sensitive dwarfing gene Ddw1 provides an opportunity to genetically reduce plant height in rye. Genetic analysis in a population of recombinant inbred lines confirmed a monogenetic dominant inheritance of Ddw1. Significant phenotypic differences in PH between homo- and heterozygotic genotypes indicate an incomplete dominance of Ddw1. De novo transcriptome sequencing of Ddw1 mutant as well as tall genotypes resulted in 113,547 contigs with an average length of 318 bp covering 36.18 Mbp rye DNA. A hierarchical cluster analysis based on individual groups of rye homologs of functionally characterized rice genes controlling morphological or physiological traits including plant height, flowering time, and source activity identified the gene expression profile of stems at the begin of heading to most comprehensively mirror effects of Ddw1. Genome-wide expression profiling identified 186 transcripts differentially expressed between semi-dwarf and tall genotypes in stems. In total, 29 novel markers have been established and mapped to a 27.2 cM segment in the distal part of the long arm of chromosome 5R. Ddw1 could be mapped within a 0.4 cM interval co-segregating with a marker representing the C20-GA2-oxidase gene ScGA2ox12, that is up-regulated in stems of Ddw1 genotypes. The increased expression of ScGA2ox12 observed in semi-dwarf rye as well as structural alterations in transcript sequences associated with the ScGA2ox12 gene implicate, that Ddw1 is a dominant gain-of-function mutant. Integration of the target interval in the wheat reference genome sequence indicated perfect micro-colinearity between the Ddw1 locus and a 831 kb segment on chromosome 5A, which resides inside of a 11.21 Mb interval carrying the GA-sensitive dwarfing gene Rht12 in wheat. The potential of Ddw1 as a breeder's option to improve lodging tolerance in rye is discussed.

Feasibility of piezoelectric endoscopic transsphenoidal craniotomy: a cadaveric study.

OBJECTIVE: Endoscopic transsphenoidal approach has become the gold standard for surgical treatment of treating pituitary adenomas or other lesions in that area. Opening of bony skull base has been performed with burrs, chisels, and hammers or standard instruments like punches and circular top knives. The creation of primary bone flaps-as in external craniotomies-is difficult.The piezoelectric osteotomes used in the present study allows creating a bone flap for endoscopic transnasal approaches in certain areas. The aim of this study was to prove the feasibility of piezoelectric endoscopic transnasal craniotomies. Study Design. Cadaveric study. METHODS: On cadaveric specimens (N = 5), a piezoelectric system with specially designed hardware for endonasal application was applied and endoscopic transsphenoidal craniotomies at the sellar floor, tuberculum sellae, and planum sphenoidale were performed up to a size of 3-5 cm(2). RESULTS: Bone flaps could be created without fracturing with the piezoosteotome and could be reimplanted. Endoscopic handling was unproblematic and time required was not exceeding standard procedures. CONCLUSION: In a cadaveric model, the piezoelectric endoscopic transsphenoidal craniotomy (PETC) is technically feasible. This technique allows the surgeon to create a bone flap in endoscopic transnasal approaches similar to existing standard transcranial craniotomies. Future trials will focus on skull base reconstruction using this bone flap.

Sudden unilateral hearing loss as first sign of cerebral sinus venous thrombosis? A 3-year retrospective analysis.

INTRODUCTION: Recently, several studies and case reports have dealt with the topic of cerebral sinus venous thrombosis (CSVT) and focused on sudden hearing loss as an early and rare symptom, to diminish the delay in diagnosing this serious disease. MATERIALS AND METHODS: We conducted a retrospective analysis over 3 years and investigated MRIs of all inpatients who were treated for sudden sensorineural hearing loss. The aim of the study was to evaluate whether sudden hearing loss could be an early indicator, or the first sign, of CSVT. RESULTS: In total, 554 patients were included. Only 2 patients with CSVT could be identified. In both, sudden unilateral sensorineural hearing loss was not the only symptom. They also reported headache, and 1 patient also reported tinnitus and vertigo. CONCLUSION: In our opinion, sudden unilateral sensorineural hearing loss alone is not a reliable indicator of CSVT. In combination with headache or visual impairment, this rare vascular disease should be taken into account.

Low molecular weight heparin therapy in pediatric otogenic sigmoid sinus thrombosis: a safe treatment option?

OBJECTIVE: Septic thrombosis of the sigmoid and lateral sinus is a rare complication of acute otitis media, mastoiditis and cholesteatoma. Hence, the aim of this chat review was to analyze the demographics, presenting symptoms, diagnosis, and therapeutic management of otogenic sigmoid sinus thrombosis. Especially the role of low molecular weight heparin in the therapy of septic intracranial sinus thrombosis in children should be illuminated. METHODS: A retrospective chart review was performed. RESULTS: Six patients were included in this trial. One patient was treated completely conservatively. All other patients underwent surgical treatment consisting of mastoidectomy (n=5), additional thrombectomy (n=3) and ligation of the internal jugular vein (n=2). All patients received intravenous antibiotics and anticoagulants. Unfractionated heparin was administered for three days after surgery followed by an anticoagulant therapy with low-molecular weight heparin for three months. The activated partial thromboplastin time (aPTT) and the anti-factor-Xa-plasma-levels were monitored during anticoagulation in short term intervals. There were no complications related to the anticoagulant therapy. Recanalization was found in all patients who were treated without thrombectomy or ligation of the internal jugular vein and in the case of complete conservative treatment. CONCLUSION: Simple mastoidectomy combined with broad spectrum antibiotics is the therapy of choice. Our results indicate that anticoagulants represent a safe treatment option if they are administered correctly.

Management of otogenic sigmoid sinus thrombosis.

OBJECTIVES: To analyze the demographics, presenting symptoms, diagnosis, and management of otogenic sigmoid sinus thrombosis and to propose an algorithm in diagnosis and treatment. METHODS: A retrospective chart review was performed. Six patients who were treated at the ENT University Hospital Graz between 2005 and 2010 were included. RESULTS: The mean age of the patients was 11.7 years. Patients were experiencing symptoms for 9.8 days on average. Presenting symptoms were headache, neck stiffness, fever, otalgia, postauricular pain, and erythema. One patient presented with sixth nerve palsy. The otoscopic findings were abnormal in all cases. Computed tomography with contrast enhancement was performed in all patients. It was possible to detect the thrombosis in all cases with computed tomographic scans after contrast administration. An additional magnetic resonance imaging was performed in 3 patients. One patient was treated completely conservatively. All other patients underwent surgical treatment consisting of mastoidectomy. Additional thrombectomy was performed in 3 patients, and ligation of the internal jugular vein was performed in 2 of these 3 patients. All patients were administered intravenous antibiotics and anticoagulants. There were no complications related to the therapy. Recanalization was found in all patients who were treated without thrombectomy or ligation of the internal jugular vein and in the patient with complete conservative treatment. CONCLUSION: Otogenic sigmoid sinus thrombosis is a rare complication of otitis media. Early treatment with broad-spectrum antibiotics combined with simple mastoidectomy is the standard treatment. Anticoagulants represent a safe treatment option if they are administered correctly.

Misdiagnosis of acute peripheral vestibulopathy in central nervous ischemic infarction.

INTRODUCTION: Vertigo is a very common symptom at otorhinolaryngology (ENT), neurological, and emergency units, but often, it is difficult to distinguish between vertigo of peripheral and central origin. PATIENTS AND METHODS: We conducted a retrospective analysis of a hospital database, including all patients admitted to the ENT University Hospital Graz after neurological examination, with a diagnosis of peripheral vestibular vertigo and subsequent diagnosis of central nervous infarction as the actual cause for the vertigo. Twelve patients were included in this study. RESULTS: All patients with acute spinning vertigo after a thorough neurological examination and with uneventful computed tomographic scans were referred to our ENT department. Nine of them presented with horizontal nystagmus. Only 1 woman experienced additional hearing loss. The mean diagnostic delay to the definite diagnosis of a central infarction through magnetic resonance imaging was 4 days (SD, 2.3 d). CONCLUSION: A careful otologic and neurological examination, including the head impulse test and caloric testing, is mandatory. Because ischemic events cannot be diagnosed in computed tomographic scans at an early stage, we strongly recommend to perform cranial magnetic resonance imaging within 48 hours from admission if vertigo has not improved under conservative treatment.

Piriformis muscle: clinical anatomy and consideration of the piriformis syndrome.

Patients with lumbosacral and buttock pain provide tacit support for recognizing the piriformis muscle as a contributing factor to the pain (piriformis syndrome). One hundred and twelve cadaveric specimens were observed to elucidate the anatomical variations of the piriformis muscle referred to the diagnostic and treatment of the piriformis syndrome. The distance between the musculotendinous junction and the insertion was measured and the piriformis categorized into three types: Type A (71, 63.39%): long upper and short lower muscle belly; Type B (40, 35.71%): short upper and long lower muscle belly; Type C (1, 0.9%): fusion of both muscle bellies at the same level. The diameter of the piriformis tendon at the level of the musculotendinous junction ranged from 3 to 9 mm (mean: 6.3 mm). The piriformis showed the following possible fusions with adjacent tendons. In type one (60, 53.57%) a rounded tendon of the piriformis reached the upper border of the greater trochanter. In type two (33, 29.46%) it first joined into the gemellus superior tendon and at last both fused with the obturator internus tendon and inserted into the medial surface of the greater trochanter. A fusion of the piriformis, obturator internus and gluteus medius tendon with the same insertion area as above was observed in type three (15, 13.39%) and finally in type four (4, 3.57%) the tendon fused with the gluteus medius to reach the upper surface of the greater trochanter. Based on this survey anatomical causes for the piriformis syndrome are rare and a more precise workup is necessary to rule out more common diagnosis.

The pyramidal lobe: clinical anatomy and its importance in thyroid surgery.

The pyramidal lobe could be a source of pitfalls in thyroidectomy, due to its frequency but unreliable preoperative diagnosis on scintigraphic images. Special attention has to be paid to the pyramidal lobe to avoid leavings of residual tissue when complete removal of the thyroid is indicated. Sixty cadaveric specimens were examined with special emphasis to the topographical anatomy and expansion of the pyramidal lobe. A pyramidal lobe was found to be present in 55% of the cadavers (32/58). It was found more frequently in men than in women. In men the median length was 14 mm and in women 29 mm. An accessory thyroid gland was present in one specimen, in four cases the isthmus was missing. The pyramidal lobe branched off more frequently from the left part of the isthmus (16) than from the right (7) or the midline (9). In two cases it originated from the left lobe. Additionally 23 scintigraphic images were analyzed to evaluate the visualization of a pyramidal lobe. Only three of them showed enlargements of the isthmus that could be taken as a pyramidal lobe. Due to its frequency the pyramidal lobe should be regarded as a normal component of the thyroid. It is not reliably diagnosed by scintigraphic imaging because scintigraphy can only give functional information but not morphological one. Therefore the anterior cervical region has to be investigated very carefully during operation in order not to leave residual thyroid tissue in total thyroidectomy.